Ataxia - telangiectasia

Diseases and Conditions

Louis-Bar syndrome

Ataxia-telangiectasia is a rare childhood disease. It affects the brain and other parts of the body.

Ataxia refers to uncoordinated movements, such as walking. Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. Telangiectasias appear as tiny, red, spider-like veins.

Ataxia-telangiectasia is inherited. This means it is passed down through families. It is an autosomal recessive trait. Both parents must provide a copy of a nonworking gene for the child to have symptoms of the disorder.

The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death around the body, including the part of the brain that helps coordinate movement.

Boys and girls are equally affected.

Symptoms

Symptoms include:

Decreased coordination of movements (ataxia) in late childhood that can include ataxic gait (cerebellar ataxia), jerky gait, unsteadiness

Decreasing mental development, slows or stops after age 10 to 12

Delayed walking

Discoloration of skin areas exposed to sunlight

Discoloration of skin (coffee-with-milk-colored spots)

Enlarged blood vessels in skin of nose, ears, and inside of the elbow and knee